research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
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150-180 / 1000+ resultsresearch Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Genetic targeting of lymphatic endothelial cells in mice: current strategies and future perspectives
Mouse models help target specific genes in lymphatic cells for research.
research LHX2 is a direct NF-κB target gene that promotes primary hair follicle placode down-growth
LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
research The role of R-spondins and their receptors in bone metabolism
R-spondins and their receptors help increase bone growth and may be used to treat bone loss diseases.
research Fast clinical response with topical ruxolitinib in the management of non-segmental vitiligo detected by VISIA® analysis system
Topical ruxolitinib quickly improves non-segmental vitiligo.
research Decision letter: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Cancer vaccine strategies and studies of human thioredoxin reductase splice variants
Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
research 0034 Cross-species insights into hair follicle-T cell interactions in discoid lupus erythematosus: A comparison of human, canine and mouse models using spatial transcriptomics
Discoid lupus erythematosus involves immune activation and fibrosis around hair follicles, with shared pathways across humans, dogs, and mice, suggesting potential treatments for both humans and animals.
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
research BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib
Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research A SUBPOPULATION OF ITCH RECEPTORS MARKED BY RET EXPRESSION
A new type of nerve cell involved in itch perception was discovered.
research Leucine-Rich Repeat-Containing G-Protein-Coupled Receptors as Markers of Adult Stem Cells
Certain proteins, Lgr5 and Lgr6, are important markers of adult stem cells and are involved in tissue repair and cancer development.
research Functional mapping of the mouse hairless gene promoter region
Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
research A novel calmodulin‐interacting Domain of Unknown Function 506 protein represses root hair elongation in Arabidopsis
The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
research The Auxin-Regulated CrRLK1L Kinase ERULUS Controls Cell Wall Composition during Root Hair Tip Growth
ERULUS controls root hair growth by regulating cell wall composition and pectin activity.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Faculty Opinions recommendation of Lrig1 expression defines a distinct multipotent stem cell population in mammalian epidermis.
Lrig1 marks a unique group of stem cells in mouse skin that can become different skin cell types.
research A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Downregulation of Lhx2 Markedly Impairs Wound Healing in Mouse Fetus
Turning off the Lhx2 gene in mouse embryos leads to slower wound healing and scars.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research A function for Rac1 in the terminal differentiation and pigmentation of hair
Rac1 is essential for proper hair structure and color.
research Constitutive Internalization of the Leucine-rich G Protein-coupled Receptor-5 (LGR5) to the Trans-Golgi Network
LGR5 mainly stays inside cells, moving to the trans-Golgi network, and this process is important for its role in cell signaling.
research Krt6a-Cre Transgenic Mice Direct LoxP-Mediated Recombination to the Companion Cell Layer of the Hair Follicle and Following Induction by Retinoic Acid to the Interfollicular Epidermis
Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.